Epicanthus, and Myoclonus

Diseases related with Epicanthus and Myoclonus

In the following list you will find some of the most common rare diseases related to Epicanthus and Myoclonus that can help you solving undiagnosed cases.


Top matches:

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54; EIEE54


Early infantile epileptic encephalopathy-54 is a severe neurodevelopmental disorder characterized by delayed psychomotor development, early-onset refractory seizures that are often initially febrile but later afebrile, and severe intellectual disability (summary by de Kovel et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54; EIEE54

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53

Medium match PEHO-LIKE SYNDROME


PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.

PEHO-LIKE SYNDROME Is also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO-LIKE SYNDROME

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Other less relevant matches:

Medium match WEST SYNDROME


West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.

WEST SYNDROME Is also known as intellectual disability-hypsarrhythmia syndrome|infantile spasm syndrome, x-linked 1|xmesid|west syndrome, x-linked|ohtahara syndrome, x-linked|infantile spasms|infantile epileptic-dyskinetic encephalopathy|issx1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about WEST SYNDROME

Low match PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION


PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION

Low match NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY


Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.

NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY Is also known as beta-hydroxyisobutyryl coa deacylase deficiency|valine metabolic defect|methacrylic aciduria|hibch deficiency|methacrylic acid toxicity

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY

Low match PONTOCEREBELLAR HYPOPLASIA TYPE 7


Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.

PONTOCEREBELLAR HYPOPLASIA TYPE 7 Is also known as pontocerebellar hypoplasia-46,xy disorder of sex development syndrome|pch7

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 7

Low match PEHO SYNDROME


PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.

PEHO SYNDROME Is also known as progressive encephalopathy-optic atrophy syndrome|progressive encephalopathy with edema, hypsarrhythmia and optic atrophy|progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy|infantile cerebellooptic atrophy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO SYNDROME

Low match PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY


Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY Is also known as pseudoneonatal adrenoleukodystrophy|pseudo-neonatal adrenoleukodystrophy|pseudo-nald|pseudoadrenoleukodystrophy|straight-chain acyl-coa oxidase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY

Low match JOUBERT SYNDROME 1; JBTS1


Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies (Saraiva and Baraitser, 1992; Valente et al., 2005). Genetic Heterogeneity of Joubert SyndromeSee also JBTS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q13; JBTS3 (OMIM ), caused by mutation in the AHI1 gene (OMIM ) on chromosome 6q23; JBTS4 (OMIM ), caused by mutation in the NPHP1 gene (OMIM ) on chromosome 2q13; JBTS5 (OMIM ), caused by mutation in the CEP290 gene, also called NPHP6 (OMIM ), on chromosome 12q21.32; JBTS6 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q21; JBTS7 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12.2; JBTS8 (OMIM ), caused by mutation in the ARL13B (OMIM ) on chromosome 3q11.2; JBTS9 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15.3; JBTS10 (OMIM ), caused by mutation in the CXORF5 gene (OMIM ) on chromosome Xp22.3; JBTS11 (see {613820}), caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; JBTS12 (see {200990}), caused by mutation in the KIF7 gene (OMIM ) on chromosome 15q26; JBTS13 (OMIM ), caused by mutation in the TCTN1 gene (OMIM ) on chromosome 12q24; JBTS14 (OMIM ), caused by mutation in the TMEM237 gene (OMIM ) on chromosome 2q33; JBTS15 (OMIM ), caused by mutation in the CEP41 gene (OMIM ) on chromosome 7q32; JBTS16 (OMIM ), caused by mutation in the TMEM138 gene (OMIM ) on chromosome 11q; JBTS17 (OMIM ), caused by mutation in the C5ORF42 gene (OMIM ) on chromosome 5p13; JBTS18 (OMIM ), caused by mutation in the TCTN3 gene (OMIM ) on chromosome 10q24; JBTS19 (see {614844}), caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16q12; JBTS20 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; JBTS21 (OMIM ), caused by mutation in the CSPP1 gene (OMIM ) on chromosome 8q13; JBTS22 (OMIM ), caused by mutation in the PDE6D gene (OMIM ) on chromosome 2q37; JBTS23 (OMIM ), caused by mutation in the KIAA0586 gene (OMIM ) on chromosome 14q23; JBTS24 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; JBTS25 (OMIM ), caused by mutation in the CEP104 gene (OMIM ) on chromosome 1p36; JBTS26 (OMIM ), caused by mutation in the KIAA0556 gene (OMIM ) on chromosome 16p12; JBTS27 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; JBTS28 (OMIM ), caused by mutation in the MKS1 gene (OMIM ) on chromosome 17q23; JBTS29 (see {617562}), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13; JBTS30 (OMIM ), caused by mutation in the ARMC9 gene (OMIM ) on chromosome 2q37; JBTS31 (OMIM ), caused by mutation in the CEP120 gene (OMIM ) on chromosome 5q23; JBTS32 (OMIM ), caused by mutation in the SUFU gene (OMIM ) on chromosome 10q24; and JBTS33 (OMIM ), caused by mutation in the PIBF1 gene (OMIM ) on chromosome 13q21.

JOUBERT SYNDROME 1; JBTS1 Is also known as cerebelloparenchymal disorder iv|jbts|cpd4|joubert syndrome|cerebellooculorenal syndrome 1|cors1|joubert-boltshauser syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 1; JBTS1

Top 5 symptoms//phenotypes associated to Epicanthus and Myoclonus

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Epicanthus and Myoclonus. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Ventriculomegaly

Uncommon Symptoms - Between 30% and 50% cases


Absent speech

Common Symptoms - More than 50% cases


Hyperreflexia

Uncommon Symptoms - Between 30% and 50% cases


Hypoplasia of the corpus callosum

Common Symptoms - More than 50% cases


Encephalopathy

Uncommon Symptoms - Between 30% and 50% cases


Optic atrophy Hypertonia Abnormal facial shape Strabismus Cerebellar hypoplasia Spasticity Brain atrophy Open mouth Progressive microcephaly Dystonia EEG abnormality Nystagmus Edema Ataxia Low-set ears Intellectual disability, severe Muscular hypotonia of the trunk Developmental regression Intellectual disability, profound Hypsarrhythmia Narrow forehead Neonatal hypotonia Apnea Muscular hypotonia Blindness Cerebral atrophy Feeding difficulties Short nose Delayed myelination Epileptic encephalopathy Status epilepticus Cerebellar atrophy Hypertelorism

Rare Symptoms - Less than 30% cases


Upslanted palpebral fissure Oculomotor apraxia Epileptic spasms Developmental stagnation Polydactyly Ptosis High palate Abnormality of the cerebral white matter Respiratory insufficiency Prominent forehead Telecanthus Irritability Macrotia Chorea Wide nasal bridge Depressed nasal bridge Esotropia Micrognathia Progressive encephalopathy Spastic tetraplegia Cryptorchidism Tetraplegia Hypoplasia of the brainstem Infantile spasms Cognitive impairment Dysphagia Full cheeks Abnormality of the eye Anteverted nares Micropenis Infantile encephalopathy Tapered finger Polymicrogyria Abnormality of eye movement Severe muscular hypotonia Retrognathia Pachygyria Elevated hepatic transaminase Retinopathy Drowsiness Occipital myelomeningocele Undetectable visual evoked potentials Retinal degeneration Neurological speech impairment Severe global developmental delay Hypodontia Peripheral demyelination Pigmentary retinopathy Atrophy/Degeneration affecting the brainstem Generalized-onset seizure Bilateral sensorineural hearing impairment Leukodystrophy Biparietal narrowing Palpebral edema Edema of the lower limbs Osteopenia Frontal bossing Failure to thrive Sensorineural hearing impairment Peripheral dysmyelination Hepatomegaly Edema of the dorsum of feet Myopia Gait disturbance Edema of the dorsum of hands Abnormal electroretinogram External ear malformation Abnormality of metabolism/homeostasis Babinski sign Brachycephaly Abnormality of upper lip Peripheral edema Respiratory failure Porencephalic cyst Periventricular leukomalacia Hearing impairment Intellectual disability, progressive Macrocephaly Hand polydactyly Dysgenesis of the cerebellar vermis Cerebellar vermis hypoplasia Encephalocele Heterotopia Hepatic fibrosis Tachypnea Chorioretinal coloboma Molar tooth sign on MRI Neonatal breathing dysregulation Brainstem dysplasia Occipital encephalocele Protruding tongue Episodic tachypnea Postaxial hand polydactyly Self-mutilation Elongated superior cerebellar peduncle Retinal dysplasia Abnormality of ocular smooth pursuit Meningoencephalocele Abnormal saccadic eye movements Abnormal pattern of respiration Impaired smooth pursuit Agenesis of cerebellar vermis Breathing dysregulation Optic nerve coloboma Apraxia Dandy-Walker malformation Inverted nipples Mandibular prognathia Abnormality of visual evoked potentials Decreased light- and dark-adapted electroretinogram amplitude CNS demyelination Hemifacial spasm Tapetoretinal degeneration Abnormality of nervous system morphology No social interaction Diffuse hepatic steatosis Central apnea Tremor Hyperactivity Aggressive behavior Macroglossia Abnormality of the kidney Coloboma Prominent nasal bridge Abnormality of the foot Abnormality of skin pigmentation Long face Retinal dystrophy Downturned corners of mouth Highly arched eyebrow Infantile muscular hypotonia Enlarged fossa interpeduncularis Renal cyst Tented upper lip vermilion Muscle weakness Abnormal palate morphology High forehead Choreoathetosis Spastic tetraparesis Lissencephaly Hyperkinesis Global brain atrophy Muscle fibrillation Spastic ataxia Abnormality of skin morphology Visual impairment Anxiety Generalized myoclonic seizures Broad forehead Dolichocephaly Facial asymmetry Unsteady gait Broad-based gait Cafe-au-lait spot Cerebral visual impairment CNS hypomyelination Deep philtrum Precocious puberty Tetraparesis Dyskinesia Overlapping toe Inability to walk Deeply set eye Febrile seizures Narrow palate Absence seizures Atonic seizures Intellectual disability, borderline Atypical absence seizures Nonconvulsive status epilepticus Downslanted palpebral fissures Hypotelorism Poor speech Postnatal microcephaly Stereotypy Delayed ability to walk Motor delay Kyphoscoliosis Sloping forehead Central hypotonia Delayed speech and language development Dyspnea Abnormality of the nervous system Bilateral ptosis Myopathic facies Gingival overgrowth Flexion contracture Prominent supraorbital ridges Clitoral hypertrophy Flat occiput Nevus flammeus Hypoplasia of the pons Thick upper lip vermilion Sex reversal Microphallus Olivopontocerebellar hypoplasia Hydrocephalus Fasciculations Malar flattening Midface retrusion Visual loss Recurrent respiratory infections Cerebral cortical atrophy Feeding difficulties in infancy Arthrogryposis multiplex congenita Abnormality of movement Limitation of joint mobility Neuronal loss in central nervous system Hypergonadotropic hypogonadism Ambiguous genitalia Neurodevelopmental delay Tetralogy of Fallot Facial hypotonia Vomiting Agenesis of corpus callosum Acidosis Lethargy Dysmetria Neurodegeneration Metabolic acidosis Increased serum lactate Aciduria Abnormal vertebral morphology Nevus Truncal ataxia Aminoaciduria Abnormality of the vertebral column Titubation Acute encephalopathy Decreased activity of the pyruvate dehydrogenase complex Encephalomalacia Hypogonadism Spastic paraplegia Gliosis Triangular-shaped open mouth



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